By Allison Proffitt
May 12, 2016 | An area-wide genetic testing initiative in Alabama is six-months in, and more than 1,000 test kits have been processed. About 4% of the tests have returned mutations.
Last October, HudsonAlpha and Kailos Genetics, both based in Huntsville, Alabama, announced Information is Power, a genetic testing initiative to offer the Kailos test to screen for mutations in BRCA1 and BRCA2 genes, as well as 21 additional genes known to be linked to breast and ovarian cancers. The test is free for 30-year old women in Huntsville and Madison, Alabama, and $99 for all adults who reside in Madison, Jackson, Limestone, Marshall and Morgan Counties through October 28, 2016.
To date, more than 1,000 kits have been processed, of which about 30% have been from 30-year old women. Overall, just under 4% of the tests have been positive for at least one mutation in the 23 tested genes linked to an increased risk for breast and ovarian cancer.
Who Gets Tested
The surprising part of that number for Troy Moore, Chief Scientific Officer at Kailos, has been the percentage of patients taking part in this initiative that already meet standard medical guidelines for genetic testing.
The National Comprehensive Cancer Network recommends BRCA testing for women with various family history factors including breast cancer diagnosed before age 50 years, cancer in both breasts in the same woman, and both breast and ovarian cancers in either the same woman or the same family. In theory, women who meet those criteria should have already been offered genetic testing through their physicians.
“Of the people that tested positive, half of them had a family history that under NCCN guidelines they should have been screened and their insurance would have probably paid for it because they met the guidelines,” Moore said. “Yet they had never been told, ‘You could be at risk, let’s go get you tested.’”
Moore continued: “I sort of expected to find some people who didn’t have a family history, but had a mutation—the other 50%—but I didn’t expect this many people to have a strong family history and not have been aware that they should get tested.”
Kimberly Strong, the HudsonAlpha faculty investigator and lead scientist for the initiative, declined to draw conclusions from the numbers at this point, but she cautioned that the 4% mutation rate must not be considered a population-wide rate. “I think that number probably represents an enrichment or a selection bias for folks who were more likely to be positive because they had a family history or were personally touched by these cancers in some way.”
Moore agrees. He observed that the earliest adopters—those who joined the initiative at its outset—were more likely to be people who had cancer in their families. The participants have been predominantly female, though testing has revealed at least one BRCA-positive male. Most order the Kailos test through their own physician. They don’t have to—a Kailos doctor will order the test—but Moore said that Kailos always encourages individuals to engage their own physicians.
Kailos and HudsonAlpha have done extensive physician and community outreach and education about the testing initiative. Processing the 1,000 tests in the past six months or so have not been a significant part of the Kailos workload—last September the lab could reportedly run 2,000 tests per month. “But from an outreach effort, it has absorbed quite a bit of our thinking and our work,” Moore said.
While it is too early to make extensive claims about the success of such a community-based testing initiative so far, the initiative is well-positioned to yield real research findings. More than 80% of the individuals who have received tests so far have agreed to be contacted again about specific research opportunities. “That’s very encouraging!” Strong said.
Strong and her colleagues already have several questions in mind they would like to explore with ethics committee approval. “I would like to understand [what impact] this kind of initiative might have on families, as far as what increased discussions they may have had.”
Moore and Kailos are also looking forward.
“HudsonAlpha has a very strong rapport with the city and the county. It was a very receptive environment, and that was good. It gave us the opportunity to show that this can work,” he said.
Kailos is talking to other groups and areas about trying something similar. All the initiatives are not likely to look the same—different groups and different areas will have their own concerns and priorities Moore said.
For instance, the initiative in Alabama offered free testing for 30-year-olds, and $99 tests for everyone else. HudsonAlpha has been fundraising and the cities of Huntsville and Madison have contributed funds. Yet Moore said they have heard some pushback on that number. “We have had—even at $99—a fair amount of people saying that’s not affordable for them.”
The Information is Power initiative officially closes October 28, 2016, so there’s still time for many more people to take part. Strong does expect to give a formal update with some stories and data at HudsonAlpha’s annual breast cancer event, Tie the Ribbons: this year on September 22.